ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	ATP synthesis coupled proton transport (GO:0015986)	5.21174320
2	energy coupled proton transport, down electrochemical gradient (GO:0015985)	5.21174320
3	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	5.04771493
4	protein complex biogenesis (GO:0070271)	4.84731163
5	establishment of protein localization to mitochondrial membrane (GO:0090151)	4.84399340
6	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	4.63668553
7	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	4.52227194
8	mitochondrial respiratory chain complex I assembly (GO:0032981)	4.52227194
9	NADH dehydrogenase complex assembly (GO:0010257)	4.52227194
10	mitochondrial respiratory chain complex assembly (GO:0033108)	4.43758064
11	DNA deamination (GO:0045006)	4.39682543
12	respiratory chain complex IV assembly (GO:0008535)	4.22177737
13	electron transport chain (GO:0022900)	4.15637191
14	respiratory electron transport chain (GO:0022904)	4.14561137
15	cytochrome complex assembly (GO:0017004)	4.02762289
16	platelet dense granule organization (GO:0060155)	3.94562527
17	chaperone-mediated protein transport (GO:0072321)	3.89687827
18	water-soluble vitamin biosynthetic process (GO:0042364)	3.86303045
19	behavioral response to nicotine (GO:0035095)	3.83147774
20	preassembly of GPI anchor in ER membrane (GO:0016254)	3.77750692
21	protein neddylation (GO:0045116)	3.62025201
22	mannosylation (GO:0097502)	3.56531852
23	epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)	3.50732071
24	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	3.44140024
25	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	3.44140024
26	epithelial cilium movement (GO:0003351)	3.43345784
27	nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)	3.40837058
28	peptidyl-histidine modification (GO:0018202)	3.32026699
29	rRNA modification (GO:0000154)	3.31281179
30	exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	3.31209786
31	hydrogen ion transmembrane transport (GO:1902600)	3.29919519
32	protein-cofactor linkage (GO:0018065)	3.28839657
33	regulation of cilium movement (GO:0003352)	3.18328062
34	proton transport (GO:0015992)	3.14918112
35	L-fucose metabolic process (GO:0042354)	3.13635879
36	L-fucose catabolic process (GO:0042355)	3.13635879
37	fucose catabolic process (GO:0019317)	3.13635879
38	hydrogen transport (GO:0006818)	3.10249158
39	C-terminal protein lipidation (GO:0006501)	3.07210614
40	intracellular protein transmembrane import (GO:0044743)	3.05908599
41	purine nucleoside triphosphate biosynthetic process (GO:0009145)	3.05189973
42	proteasome assembly (GO:0043248)	3.03775507
43	ATP biosynthetic process (GO:0006754)	3.02018977
44	purine ribonucleoside triphosphate biosynthetic process (GO:0009206)	3.01292018
45	GTP biosynthetic process (GO:0006183)	2.98989983
46	regulation of mitochondrial translation (GO:0070129)	2.96152771
47	pseudouridine synthesis (GO:0001522)	2.94116744
48	inner mitochondrial membrane organization (GO:0007007)	2.91384212
49	C-terminal protein amino acid modification (GO:0018410)	2.90881736
50	GPI anchor metabolic process (GO:0006505)	2.87106669
51	tRNA processing (GO:0008033)	2.86877792
52	rRNA methylation (GO:0031167)	2.86146097
53	cellular ketone body metabolic process (GO:0046950)	2.85010417
54	ubiquinone biosynthetic process (GO:0006744)	2.84493547
55	negative regulation of telomere maintenance (GO:0032205)	2.83961761
56	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.83780359
57	transcription elongation from RNA polymerase III promoter (GO:0006385)	2.81607628
58	termination of RNA polymerase III transcription (GO:0006386)	2.81607628
59	response to pheromone (GO:0019236)	2.79881488
60	anterograde synaptic vesicle transport (GO:0048490)	2.78343740
61	piRNA metabolic process (GO:0034587)	2.75439965
62	detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	2.73243805
63	adenosine metabolic process (GO:0046085)	2.72887314
64	GPI anchor biosynthetic process (GO:0006506)	2.67073391
65	ribosomal small subunit assembly (GO:0000028)	2.65035919
66	replication fork processing (GO:0031297)	2.64319596
67	DNA double-strand break processing (GO:0000729)	2.64097348
68	indole-containing compound catabolic process (GO:0042436)	2.63466969
69	indolalkylamine catabolic process (GO:0046218)	2.63466969
70	tryptophan catabolic process (GO:0006569)	2.63466969
71	indolalkylamine metabolic process (GO:0006586)	2.63257658
72	recombinational repair (GO:0000725)	2.61010071
73	protein localization to cilium (GO:0061512)	2.59498973
74	double-strand break repair via homologous recombination (GO:0000724)	2.59082876
75	ketone body metabolic process (GO:1902224)	2.58063618
76	maturation of 5.8S rRNA (GO:0000460)	2.56922078
77	protein polyglutamylation (GO:0018095)	2.54547638
78	cullin deneddylation (GO:0010388)	2.54131532
79	protein deneddylation (GO:0000338)	2.53874111
80	ubiquinone metabolic process (GO:0006743)	2.53058031
81	ribonucleoside triphosphate biosynthetic process (GO:0009201)	2.52217556
82	establishment of protein localization to mitochondrion (GO:0072655)	2.51109821
83	cilium movement (GO:0003341)	2.48974226
84	protein targeting to mitochondrion (GO:0006626)	2.48489415
85	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.45960515
86	signal peptide processing (GO:0006465)	2.45930885
87	L-methionine salvage (GO:0071267)	2.43794999
88	L-methionine biosynthetic process (GO:0071265)	2.43794999
89	amino acid salvage (GO:0043102)	2.43794999
90	nonmotile primary cilium assembly (GO:0035058)	2.43255071
91	tryptophan metabolic process (GO:0006568)	2.41734113
92	protein K6-linked ubiquitination (GO:0085020)	2.41582311
93	cilium morphogenesis (GO:0060271)	2.41516833
94	male meiosis I (GO:0007141)	2.39839579
95	cotranslational protein targeting to membrane (GO:0006613)	2.37396964
96	dopamine transport (GO:0015872)	2.37275803
97	axoneme assembly (GO:0035082)	2.36335265
98	kynurenine metabolic process (GO:0070189)	2.36282244
99	protein localization to mitochondrion (GO:0070585)	2.36278694
100	SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	2.36264718

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.09661498
2	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.89898919
3	ZNF274_21170338_ChIP-Seq_K562_Hela	3.57372179
4	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.48207098
5	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	3.18436594
6	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	3.05323494
7	VDR_22108803_ChIP-Seq_LS180_Human	2.79481204
8	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.52165731
9	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	2.48535978
10	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.43611582
11	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.40322772
12	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.32756936
13	VDR_23849224_ChIP-Seq_CD4+_Human	2.31604989
14	ELK1_19687146_ChIP-ChIP_HELA_Human	2.28261270
15	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.11243352
16	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.04056930
17	FUS_26573619_Chip-Seq_HEK293_Human	2.03274693
18	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.99300793
19	EWS_26573619_Chip-Seq_HEK293_Human	1.94974560
20	FOXP3_21729870_ChIP-Seq_TREG_Human	1.94522922
21	IGF1R_20145208_ChIP-Seq_DFB_Human	1.94075654
22	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.91899305
23	GBX2_23144817_ChIP-Seq_PC3_Human	1.89233823
24	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.88752317
25	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.88327962
26	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.85816744
27	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.85414858
28	MYC_18940864_ChIP-ChIP_HL60_Human	1.76801897
29	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.76152158
30	TP53_22573176_ChIP-Seq_HFKS_Human	1.75438497
31	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.75357378
32	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.74733380
33	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.69533631
34	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.67818023
35	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.63204152
36	P300_19829295_ChIP-Seq_ESCs_Human	1.60121081
37	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.59122750
38	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.57316876
39	IRF1_19129219_ChIP-ChIP_H3396_Human	1.50850786
40	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.47723099
41	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.46754262
42	ER_23166858_ChIP-Seq_MCF-7_Human	1.43290970
43	EZH2_22144423_ChIP-Seq_EOC_Human	1.36598409
44	TAF15_26573619_Chip-Seq_HEK293_Human	1.36076387
45	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.33282188
46	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.33125198
47	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.33125198
48	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.30701783
49	NANOG_19829295_ChIP-Seq_ESCs_Human	1.27652630
50	SOX2_19829295_ChIP-Seq_ESCs_Human	1.27652630
51	AR_20517297_ChIP-Seq_VCAP_Human	1.26129792
52	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.24582628
53	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.22490178
54	CBP_20019798_ChIP-Seq_JUKART_Human	1.20883028
55	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.20883028
56	GATA3_21878914_ChIP-Seq_MCF-7_Human	1.19987966
57	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.19879573
58	NCOR_22424771_ChIP-Seq_293T_Human	1.15812748
59	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	1.15290903
60	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.14974804
61	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.13481985
62	GABP_19822575_ChIP-Seq_HepG2_Human	1.12736530
63	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.11750630
64	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.10762350
65	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.06948668
66	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.05316758
67	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.04819815
68	BCAT_22108803_ChIP-Seq_LS180_Human	1.04372419
69	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.04079522
70	HTT_18923047_ChIP-ChIP_STHdh_Human	1.03928514
71	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.03176897
72	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.01945765
73	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	1.01791920
74	AR_25329375_ChIP-Seq_VCAP_Human	1.01102566
75	DCP1A_22483619_ChIP-Seq_HELA_Human	1.00347349
76	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.00259199
77	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.98952991
78	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.98941845
79	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.98725867
80	TTF2_22483619_ChIP-Seq_HELA_Human	0.97842939
81	BMI1_23680149_ChIP-Seq_NPCS_Mouse	0.97486509
82	GATA3_26560356_Chip-Seq_TH2_Human	0.96638383
83	HOXB7_26014856_ChIP-Seq_BT474_Human	0.93004827
84	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.91809395
85	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.91355022
86	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.91008726
87	AUTS2_25519132_ChIP-Seq_293T-REX_Human	0.90958957
88	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.90330116
89	MYC_19829295_ChIP-Seq_ESCs_Human	0.90186450
90	YY1_21170310_ChIP-Seq_MESCs_Mouse	0.89551345
91	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.89548504
92	TCF4_22108803_ChIP-Seq_LS180_Human	0.89545159
93	PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse	0.89500812
94	NANOG_20526341_ChIP-Seq_ESCs_Human	0.89464553
95	ERG_20517297_ChIP-Seq_VCAP_Human	0.88998341
96	E2F4_17652178_ChIP-ChIP_JURKAT_Human	0.87014834
97	POU5F1_26923725_Chip-Seq_MESODERM_Mouse	0.86094347
98	TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.86094347
99	TCF4_23295773_ChIP-Seq_U87_Human	0.85960027
100	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.85152389

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002837_dystrophic_cardiac_calcinosis	2.93240066
2	MP0006072_abnormal_retinal_apoptosis	2.45402196
3	MP0005075_abnormal_melanosome_morpholog	2.39993106
4	MP0008877_abnormal_DNA_methylation	2.32741630
5	MP0003806_abnormal_nucleotide_metabolis	2.30051203
6	MP0003195_calcinosis	2.26688135
7	MP0002876_abnormal_thyroid_physiology	2.14373437
8	MP0005646_abnormal_pituitary_gland	2.06281640
9	MP0006292_abnormal_olfactory_placode	2.01775299
10	MP0005551_abnormal_eye_electrophysiolog	2.00635402
11	MP0004147_increased_porphyrin_level	1.97897822
12	MP0000372_irregular_coat_pigmentation	1.96838292
13	MP0001968_abnormal_touch/_nociception	1.92271063
14	MP0008058_abnormal_DNA_repair	1.92097745
15	MP0002938_white_spotting	1.87745121
16	MP0002102_abnormal_ear_morphology	1.87660219
17	MP0002163_abnormal_gland_morphology	1.87527831
18	MP0005174_abnormal_tail_pigmentation	1.87506722
19	MP0003011_delayed_dark_adaptation	1.85372118
20	MP0000569_abnormal_digit_pigmentation	1.83934835
21	MP0002638_abnormal_pupillary_reflex	1.80078135
22	MP0006036_abnormal_mitochondrial_physio	1.77405804
23	MP0005253_abnormal_eye_physiology	1.73595985
24	MP0004142_abnormal_muscle_tone	1.73185956
25	MP0003787_abnormal_imprinting	1.71496145
26	MP0005084_abnormal_gallbladder_morpholo	1.71067916
27	MP0008875_abnormal_xenobiotic_pharmacok	1.68657329
28	MP0001986_abnormal_taste_sensitivity	1.68077609
29	MP0004885_abnormal_endolymph	1.66168301
30	MP0008872_abnormal_physiological_respon	1.64860953
31	MP0006035_abnormal_mitochondrial_morpho	1.61285672
32	MP0005379_endocrine/exocrine_gland_phen	1.59612847
33	MP0003186_abnormal_redox_activity	1.59397888
34	MP0001529_abnormal_vocalization	1.59088039
35	MP0005645_abnormal_hypothalamus_physiol	1.55639130
36	MP0001905_abnormal_dopamine_level	1.54722835
37	MP0002736_abnormal_nociception_after	1.53941407
38	MP0002653_abnormal_ependyma_morphology	1.53224661
39	MP0003136_yellow_coat_color	1.51267342
40	MP0003718_maternal_effect	1.50069181
41	MP0003880_abnormal_central_pattern	1.49921508
42	MP0005389_reproductive_system_phenotype	1.41755197
43	MP0009046_muscle_twitch	1.39660232
44	MP0009745_abnormal_behavioral_response	1.38091764
45	MP0002095_abnormal_skin_pigmentation	1.36618720
46	MP0000631_abnormal_neuroendocrine_gland	1.34035300
47	MP0001919_abnormal_reproductive_system	1.32962389
48	MP0001764_abnormal_homeostasis	1.30979862
49	MP0003786_premature_aging	1.30654125
50	MP0003646_muscle_fatigue	1.28932720
51	MP0002160_abnormal_reproductive_system	1.28805907
52	MP0005410_abnormal_fertilization	1.27908383
53	MP0004133_heterotaxia	1.26321806
54	MP0001984_abnormal_olfaction	1.21957213
55	MP0002272_abnormal_nervous_system	1.21580380
56	MP0002277_abnormal_respiratory_mucosa	1.21248494
57	MP0001485_abnormal_pinna_reflex	1.18103435
58	MP0010386_abnormal_urinary_bladder	1.16831604
59	MP0002928_abnormal_bile_duct	1.14499825
60	MP0006276_abnormal_autonomic_nervous	1.12837925
61	MP0004145_abnormal_muscle_electrophysio	1.12339965
62	MP0002693_abnormal_pancreas_physiology	1.11893695
63	MP0000015_abnormal_ear_pigmentation	1.10886864
64	MP0008995_early_reproductive_senescence	1.09948480
65	MP0005671_abnormal_response_to	1.08475428
66	MP0000427_abnormal_hair_cycle	1.08411945
67	MP0005332_abnormal_amino_acid	1.03248021
68	MP0005408_hypopigmentation	1.00239010
69	MP0004043_abnormal_pH_regulation	0.98092685
70	MP0001501_abnormal_sleep_pattern	0.96416607
71	MP0009379_abnormal_foot_pigmentation	0.94308509
72	MP0001324_abnormal_eye_pigmentation	0.94233324
73	MP0009697_abnormal_copulation	0.94089207
74	MP0008789_abnormal_olfactory_epithelium	0.92758568
75	MP0003121_genomic_imprinting	0.90912808
76	MP0001486_abnormal_startle_reflex	0.90398080
77	MP0001929_abnormal_gametogenesis	0.88738396
78	MP0001188_hyperpigmentation	0.88319423
79	MP0005636_abnormal_mineral_homeostasis	0.86359816
80	MP0002210_abnormal_sex_determination	0.85461181
81	MP0001944_abnormal_pancreas_morphology	0.85372922
82	MP0002234_abnormal_pharynx_morphology	0.84747171
83	MP0002751_abnormal_autonomic_nervous	0.83073415
84	MP0003698_abnormal_male_reproductive	0.82764258
85	MP0001970_abnormal_pain_threshold	0.82246054
86	MP0005195_abnormal_posterior_eye	0.80882602
87	MP0002909_abnormal_adrenal_gland	0.79119975
88	MP0004742_abnormal_vestibular_system	0.77511168
89	MP0000653_abnormal_sex_gland	0.77045472
90	MP0003283_abnormal_digestive_organ	0.76936854
91	MP0001293_anophthalmia	0.76820829
92	MP0003252_abnormal_bile_duct	0.76264788
93	MP0002572_abnormal_emotion/affect_behav	0.76205161
94	MP0005365_abnormal_bile_salt	0.74678200
95	MP0002138_abnormal_hepatobiliary_system	0.74163156
96	MP0002735_abnormal_chemical_nociception	0.73910379
97	MP0002148_abnormal_hypersensitivity_rea	0.73348696
98	MP0002067_abnormal_sensory_capabilities	0.72762173
99	MP0002557_abnormal_social/conspecific_i	0.72665141
100	MP0001145_abnormal_male_reproductive	0.72043772

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Acute necrotizing encephalopathy (HP:0006965)	4.37855544
2	Mitochondrial inheritance (HP:0001427)	4.10362904
3	Abnormal mitochondria in muscle tissue (HP:0008316)	4.03151362
4	Pancreatic cysts (HP:0001737)	3.89726495
5	Progressive macrocephaly (HP:0004481)	3.85898169
6	Increased CSF lactate (HP:0002490)	3.85569034
7	Acute encephalopathy (HP:0006846)	3.81814836
8	Pancreatic fibrosis (HP:0100732)	3.66230716
9	Hepatocellular necrosis (HP:0001404)	3.58430036
10	Abnormality of midbrain morphology (HP:0002418)	3.56110308
11	Molar tooth sign on MRI (HP:0002419)	3.56110308
12	3-Methylglutaconic aciduria (HP:0003535)	3.55346005
13	Lipid accumulation in hepatocytes (HP:0006561)	3.49721358
14	Hepatic necrosis (HP:0002605)	3.38593677
15	Increased hepatocellular lipid droplets (HP:0006565)	3.25682653
16	True hermaphroditism (HP:0010459)	3.19073509
17	Nephronophthisis (HP:0000090)	3.15889220
18	Medial flaring of the eyebrow (HP:0010747)	3.13478991
19	Congenital stationary night blindness (HP:0007642)	3.06667719
20	Type II lissencephaly (HP:0007260)	2.98609288
21	Abnormality of the renal cortex (HP:0011035)	2.92680257
22	Renal Fanconi syndrome (HP:0001994)	2.70908523
23	Abnormality of the renal medulla (HP:0100957)	2.70538901
24	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.70425073
25	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.70425073
26	Cerebral edema (HP:0002181)	2.69626228
27	Increased serum lactate (HP:0002151)	2.57484854
28	Renal cortical cysts (HP:0000803)	2.54822605
29	Bile duct proliferation (HP:0001408)	2.52800543
30	Abnormal biliary tract physiology (HP:0012439)	2.52800543
31	Congenital, generalized hypertrichosis (HP:0004540)	2.52432739
32	Optic disc pallor (HP:0000543)	2.52162074
33	Lactic acidosis (HP:0003128)	2.48566263
34	Abnormal rod and cone electroretinograms (HP:0008323)	2.46757350
35	Methylmalonic acidemia (HP:0002912)	2.39338178
36	Increased intramyocellular lipid droplets (HP:0012240)	2.38783178
37	Congenital primary aphakia (HP:0007707)	2.38708155
38	Gait imbalance (HP:0002141)	2.38095499
39	Hypothermia (HP:0002045)	2.35943329
40	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	2.35908501
41	Abolished electroretinogram (ERG) (HP:0000550)	2.34952520
42	Abnormal number of erythroid precursors (HP:0012131)	2.31724854
43	Nephrogenic diabetes insipidus (HP:0009806)	2.30976488
44	Hyperalaninemia (HP:0003348)	2.30497877
45	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	2.30497877
46	Abnormality of alanine metabolism (HP:0010916)	2.30497877
47	Methylmalonic aciduria (HP:0012120)	2.25413770
48	Cystic liver disease (HP:0006706)	2.23985120
49	Aplasia/hypoplasia of the uterus (HP:0008684)	2.20490682
50	Absent rod-and cone-mediated responses on ERG (HP:0007688)	2.20449103
51	Respiratory failure (HP:0002878)	2.20106711
52	Polydipsia (HP:0001959)	2.19542296
53	Abnormal drinking behavior (HP:0030082)	2.19542296
54	Increased muscle lipid content (HP:0009058)	2.18942999
55	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	2.17228615
56	Exertional dyspnea (HP:0002875)	2.16783197
57	Abnormal respiratory epithelium morphology (HP:0012253)	2.14208849
58	Abnormal respiratory motile cilium morphology (HP:0005938)	2.14208849
59	Sclerocornea (HP:0000647)	2.11153101
60	Abnormality of cells of the erythroid lineage (HP:0012130)	2.09061592
61	Lethargy (HP:0001254)	2.08848620
62	Glycosuria (HP:0003076)	2.08375174
63	Abnormality of urine glucose concentration (HP:0011016)	2.08375174
64	Attenuation of retinal blood vessels (HP:0007843)	2.03196013
65	Abnormality of B cell number (HP:0010975)	2.01010487
66	Abnormality of renal resorption (HP:0011038)	1.98803476
67	Absent/shortened dynein arms (HP:0200106)	1.97495439
68	Dynein arm defect of respiratory motile cilia (HP:0012255)	1.97495439
69	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.93619564
70	Abnormal protein N-linked glycosylation (HP:0012347)	1.93619564
71	Abnormal protein glycosylation (HP:0012346)	1.93619564
72	Abnormal glycosylation (HP:0012345)	1.93619564
73	Abnormal ciliary motility (HP:0012262)	1.92531851
74	Stomatitis (HP:0010280)	1.92433402
75	Pendular nystagmus (HP:0012043)	1.91786174
76	Anencephaly (HP:0002323)	1.90087760
77	Type I transferrin isoform profile (HP:0003642)	1.88556183
78	Exercise intolerance (HP:0003546)	1.86686861
79	Genital tract atresia (HP:0001827)	1.86493054
80	B lymphocytopenia (HP:0010976)	1.84240265
81	Furrowed tongue (HP:0000221)	1.83479060
82	Polyuria (HP:0000103)	1.82656509
83	Congenital hepatic fibrosis (HP:0002612)	1.82379787
84	Aplasia/Hypoplasia of the spleen (HP:0010451)	1.81416381
85	Tubular atrophy (HP:0000092)	1.81328650
86	Large for gestational age (HP:0001520)	1.79509683
87	CNS demyelination (HP:0007305)	1.79278306
88	Male pseudohermaphroditism (HP:0000037)	1.79198779
89	Chronic hepatic failure (HP:0100626)	1.78970082
90	Vaginal atresia (HP:0000148)	1.78955187
91	Hyperglycinemia (HP:0002154)	1.78711252
92	Aplasia/Hypoplasia of the tongue (HP:0010295)	1.78563870
93	Abnormality of the pons (HP:0007361)	1.78515533
94	Absent thumb (HP:0009777)	1.78479164
95	Abnormal respiratory motile cilium physiology (HP:0012261)	1.78154142
96	Ketosis (HP:0001946)	1.78090952
97	Leukodystrophy (HP:0002415)	1.76891304
98	Hypoplasia of the pons (HP:0012110)	1.76224370
99	IgG deficiency (HP:0004315)	1.69425734
100	Asplenia (HP:0001746)	1.69045728

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	3.53729936
2	ZAK	3.20059601
3	MAP4K2	3.17894094
4	BMPR1B	2.83265128
5	PINK1	2.77877423
6	ADRBK2	2.77066641
7	NUAK1	2.44453769
8	GRK1	2.23367183
9	STK16	2.20857205
10	VRK2	2.19560270
11	TAOK3	2.13883189
12	TLK1	1.97338397
13	WNK3	1.96637673
14	WNK4	1.90397746
15	TXK	1.70272667
16	BCKDK	1.60709604
17	MAP3K4	1.48722034
18	VRK1	1.44663463
19	DYRK2	1.44559546
20	STK39	1.39877023
21	MAPK13	1.30139441
22	EIF2AK3	1.29952641
23	CSNK1G1	1.26048753
24	INSRR	1.25876737
25	CSNK1G3	1.24153469
26	ACVR1B	1.22729158
27	TNIK	1.20967411
28	CSNK1G2	1.16457174
29	OXSR1	1.15320525
30	MST4	1.15093057
31	CASK	1.11881263
32	NME1	1.08415257
33	TIE1	1.06514860
34	BUB1	1.03872233
35	SRPK1	1.03624177
36	MAP2K7	1.02861284
37	TRIM28	1.02018628
38	TEC	1.00372710
39	DAPK2	0.95374855
40	PLK4	0.92603444
41	PLK3	0.89759309
42	CSNK1A1L	0.86588548
43	KIT	0.86566274
44	STK38L	0.86451076
45	PAK3	0.84193944
46	MAP3K12	0.80216500
47	PRKCG	0.79343716
48	PHKG1	0.79222028
49	PHKG2	0.79222028
50	MKNK2	0.78771633
51	ADRBK1	0.77343552
52	PRKCE	0.76547888
53	PRKCQ	0.76144281
54	IKBKB	0.75095527
55	BRSK2	0.75043758
56	EIF2AK1	0.73400309
57	MUSK	0.72821014
58	DYRK3	0.71597802
59	FGFR2	0.71390973
60	TGFBR1	0.69618258
61	MARK3	0.69511058
62	MAPKAPK3	0.66874328
63	ERBB3	0.66655401
64	CCNB1	0.65533550
65	PDK2	0.64041854
66	PLK2	0.63609912
67	CDC7	0.63398679
68	TAF1	0.63325150
69	RPS6KA5	0.61328399
70	ITK	0.58116449
71	PASK	0.58066135
72	CDK8	0.56712861
73	WEE1	0.55170701
74	PRKCI	0.52615074
75	MAPKAPK5	0.52033035
76	NLK	0.50606764
77	PLK1	0.50572201
78	MKNK1	0.49527727
79	GRK7	0.49443567
80	NTRK3	0.47063428
81	ATR	0.46673205
82	CSNK1A1	0.45880879
83	SYK	0.44252051
84	CAMKK2	0.43850685
85	FLT3	0.42741711
86	OBSCN	0.42315865
87	CSNK2A1	0.41354940
88	PRKACA	0.41139688
89	NME2	0.40855155
90	CSNK2A2	0.40410168
91	FES	0.40006589
92	PTK2B	0.38606392
93	BMPR2	0.37266570
94	LYN	0.36710479
95	MAP2K6	0.36025443
96	IRAK1	0.35731405
97	PRKG1	0.33453426
98	MATK	0.33226504
99	PRKCA	0.30901583
100	RPS6KA4	0.30625647

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Oxidative phosphorylation_Homo sapiens_hsa00190	4.26229118
2	Parkinsons disease_Homo sapiens_hsa05012	3.48790640
3	Protein export_Homo sapiens_hsa03060	2.96036399
4	Ribosome_Homo sapiens_hsa03010	2.87592274
5	Proteasome_Homo sapiens_hsa03050	2.65975926
6	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.63391537
7	RNA polymerase_Homo sapiens_hsa03020	2.32726730
8	Huntingtons disease_Homo sapiens_hsa05016	2.31462696
9	Alzheimers disease_Homo sapiens_hsa05010	2.24637433
10	Homologous recombination_Homo sapiens_hsa03440	2.14769706
11	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	2.07906813
12	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	2.07197540
13	Basal transcription factors_Homo sapiens_hsa03022	2.03625290
14	Phototransduction_Homo sapiens_hsa04744	1.98253148
15	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.86717593
16	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	1.86092401
17	Cardiac muscle contraction_Homo sapiens_hsa04260	1.74231509
18	Nitrogen metabolism_Homo sapiens_hsa00910	1.72324538
19	Fanconi anemia pathway_Homo sapiens_hsa03460	1.60742194
20	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.58924755
21	RNA degradation_Homo sapiens_hsa03018	1.58082158
22	Butanoate metabolism_Homo sapiens_hsa00650	1.57611220
23	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.52034929
24	Collecting duct acid secretion_Homo sapiens_hsa04966	1.43475180
25	Intestinal immune network for IgA production_Homo sapiens_hsa04672	1.40632044
26	Linoleic acid metabolism_Homo sapiens_hsa00591	1.38172688
27	Selenocompound metabolism_Homo sapiens_hsa00450	1.37954362
28	Asthma_Homo sapiens_hsa05310	1.34703631
29	Propanoate metabolism_Homo sapiens_hsa00640	1.32981481
30	Regulation of autophagy_Homo sapiens_hsa04140	1.27395856
31	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.24282764
32	Pyrimidine metabolism_Homo sapiens_hsa00240	1.23922247
33	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.23080035
34	Caffeine metabolism_Homo sapiens_hsa00232	1.16822381
35	Tryptophan metabolism_Homo sapiens_hsa00380	1.16098081
36	One carbon pool by folate_Homo sapiens_hsa00670	1.12004998
37	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	1.11851265
38	Peroxisome_Homo sapiens_hsa04146	1.10983568
39	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	1.10169818
40	Type I diabetes mellitus_Homo sapiens_hsa04940	1.07692980
41	Nucleotide excision repair_Homo sapiens_hsa03420	1.07448990
42	Purine metabolism_Homo sapiens_hsa00230	1.05859742
43	Sulfur metabolism_Homo sapiens_hsa00920	1.04270558
44	Mismatch repair_Homo sapiens_hsa03430	1.03489456
45	Ether lipid metabolism_Homo sapiens_hsa00565	1.00164954
46	Folate biosynthesis_Homo sapiens_hsa00790	0.99527364
47	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.97794618
48	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	0.97244304
49	Primary immunodeficiency_Homo sapiens_hsa05340	0.97013804
50	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.92907375
51	Non-homologous end-joining_Homo sapiens_hsa03450	0.89632063
52	Allograft rejection_Homo sapiens_hsa05330	0.89521473
53	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.88448835
54	Olfactory transduction_Homo sapiens_hsa04740	0.87560364
55	Base excision repair_Homo sapiens_hsa03410	0.86473561
56	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.85714158
57	Chemical carcinogenesis_Homo sapiens_hsa05204	0.85552067
58	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.85063603
59	Rheumatoid arthritis_Homo sapiens_hsa05323	0.84721058
60	Metabolic pathways_Homo sapiens_hsa01100	0.83288861
61	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	0.82897653
62	DNA replication_Homo sapiens_hsa03030	0.81558278
63	Nicotine addiction_Homo sapiens_hsa05033	0.78925647
64	Fatty acid elongation_Homo sapiens_hsa00062	0.77566870
65	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	0.77476983
66	Graft-versus-host disease_Homo sapiens_hsa05332	0.75212655
67	Spliceosome_Homo sapiens_hsa03040	0.73322300
68	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.72912404
69	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.72143271
70	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.69396335
71	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.69126584
72	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.67092226
73	RNA transport_Homo sapiens_hsa03013	0.67033133
74	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.65702841
75	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.64273434
76	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.63269835
77	Glutathione metabolism_Homo sapiens_hsa00480	0.61708396
78	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.60904197
79	Retinol metabolism_Homo sapiens_hsa00830	0.56745783
80	Taste transduction_Homo sapiens_hsa04742	0.55792266
81	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.53826803
82	beta-Alanine metabolism_Homo sapiens_hsa00410	0.53298231
83	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.52393912
84	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.49723654
85	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.46800953
86	Sulfur relay system_Homo sapiens_hsa04122	0.44122671
87	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.43450161
88	Mineral absorption_Homo sapiens_hsa04978	0.42275037
89	Morphine addiction_Homo sapiens_hsa05032	0.40448970
90	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.39646390
91	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.38704649
92	Steroid biosynthesis_Homo sapiens_hsa00100	0.37731956
93	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.37201781
94	Insulin secretion_Homo sapiens_hsa04911	0.36792640
95	Fatty acid degradation_Homo sapiens_hsa00071	0.30488699
96	Serotonergic synapse_Homo sapiens_hsa04726	0.30449054
97	GABAergic synapse_Homo sapiens_hsa04727	0.28286185
98	Pyruvate metabolism_Homo sapiens_hsa00620	0.26914472
99	Fatty acid metabolism_Homo sapiens_hsa01212	0.26610024
100	Fat digestion and absorption_Homo sapiens_hsa04975	0.25045274

PIGBOS1

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »